Kenjiro Kosaki

Center for Medical Genetics

Websitehttps://k-ris.keio.ac.jp/html/100007220_en.html

Source: Scopus
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4678 Citations
35 h-Index
279 Article
37 Letter
15 Review article
8 Comment/debate
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- 1 Chapter

A case of neuronal ceroid lipofuscinosis type 8 associated with central precocious puberty
Saito, M., Hirano, D., Kobayashi, H., Kosaki, K. & Miyata, I., 2021 Mar, In: Pediatrics International. 63, 3, p. 338-339 2 p.
Research output: Contribution to journal › Article › peer-review
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Biesecker, L. G., Adam, M. P., Alkuraya, F. S., Amemiya, A. R., Bamshad, M. J., Beck, A. E., Bennett, J. T., Bird, L. M., Carey, J. C., Chung, B., Clark, R. D., Cox, T. C., Curry, C., Dinulos, M. B. P., Dobyns, W. B., Giampietro, P. F., Girisha, K. M., Glass, I. A., Graham, J. M., Gripp, K. W. & 27 others, Haldeman-Englert, C. R., Hall, B. D., Innes, A. M., Kalish, J. M., Keppler-Noreuil, K. M., Kosaki, K., Kozel, B. A., Mirzaa, G. M., Mulvihill, J. J., Nowaczyk, M. J. M., Pagon, R. A., Retterer, K., Rope, A. F., Sanchez-Lara, P. A., Seaver, L. H., Shieh, J. T., Slavotinek, A. M., Sobering, A. K., Stevens, C. A., Stevenson, D. A., Tan, T. Y., Tan, W. H., Tsai, A. C., Weaver, D. D., Williams, M. S., Zackai, E. & Zarate, Y. A., 2021 Jan 7, In: American Journal of Human Genetics. 108, 1, p. 8-15 8 p.
Research output: Contribution to journal › Review article › peer-review
1 Citation (Scopus)
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants
Takahashi, Y., Kubota, M., Kosaki, R., Kosaki, K. & Ishiguro, A., 2021 Mar, In: Brain and Development. 43, 3, p. 464-469 6 p.
Research output: Contribution to journal › Article › peer-review
ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children
Sasaki, M., Sumitomo, N., Shimizu-Motohashi, Y., Takeshita, E., Kurosawa, K., Kosaki, K., Iwama, K., Mizuguchi, T. & Matsumoto, N., 2021 Jan, In: Developmental Medicine and Child Neurology. 63, 1, p. 111-115 5 p.
Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus)
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome
Nishina, S., Hosono, K., Ishitani, S., Kosaki, K., Yokoi, T., Yoshida, T., Tomita, K., Fukami, M., Saitsu, H., Ogata, T., Ishitani, T., Hotta, Y. & Azuma, N., 2021, (Accepted/In press) In: Journal of Human Genetics.
Research output: Contribution to journal › Article › peer-review

Open Access

A case of neuronal ceroid lipofuscinosis type 8 associated with central precocious puberty

A dyadic approach to the delineation of diagnostic entities in clinical genomics

A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants

ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome